J Korean Neurol Assoc.  1998 Feb;16(1):99-104.

X-linked Recessive Bulbospinal Muscular Atrophy( Kennedy's Syndrome): A Case Report

Affiliations
  • 1Department of Neurology, College of Medicine, SungKyunKwan University, SamSung Medical Center.
  • 2Department of Pediatrics, College of Medicine, SungKyunKwan University, SamSung Medical Center.

Abstract

We report a family of X-linked recessive bulbospinal muscular atrophy, which was confirmed by DNA analysis. A 68-year-old man had been suffered from slowly progressive general weakness and muscle wasting for 15 years. On examination, He was dysarthric with nasal voice and had facial muscle weakness with involuntary fascicular contractions. The tongue was wasted with fasciculations. All tendon reflexes were absent. He had not sensory disturbances or any signs of pyramidal involvement. He had gynecomastia and had complained of hand tremor. EMG revealed widespread chronic denervation. Nerve conduction studies and histopathological results showed a pattern of motor-sensory neuropathy. There was an abnormal expansion of CAG repeats in the androgen receptor gene. And two his daughters and two sons were performed DNA analysis, which revealed this disease was X-linked recessive inheritance pattern.


MeSH Terms

Aged
Denervation
DNA
Facial Muscles
Fasciculation
Gynecomastia
Hand
Humans
Inheritance Patterns
Male
Muscular Atrophy
Neural Conduction
Nuclear Family
Receptors, Androgen
Reflex, Stretch
Tongue
Tremor
Voice
DNA
Receptors, Androgen
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